The LYRM7gene helps build part of the energy factory in our cells. If it’s not working right, energy production is affected. This can cause problems in parts of the body that need a lot of energy, like the brain. The LYRM7gene helps the body make energy in cells, especially in the brain and muscles. Both parents need to pass on a change in this gene for a child to be affected. One common change in this gene—called a start-loss change (c.2T>C)—has been found in different families around the world.
Because of this, doctors are discovering more symptoms, like cyst-like spots in the brain and vision loss in adults, which help us better understand this condition.
LYRM7